Breast Cancer Research and Treatment

, Volume 170, Issue 3, pp 517–524 | Cite as

Randomized trial of proactive rapid genetic counseling versus usual care for newly diagnosed breast cancer patients

  • Marc D. Schwartz
  • Beth N. Peshkin
  • Claudine Isaacs
  • Shawna Willey
  • Heiddis B. Valdimarsdottir
  • Rachel Nusbaum
  • Gillian Hooker
  • Suzanne O’Neill
  • Lina Jandorf
  • Scott P. Kelly
  • Jessica Heinzmann
  • Aliza Zidell
  • Katia Khoury
Clinical trial



Breast cancer patients who carry BRCA1/BRCA2 gene mutations may consider bilateral mastectomy. Having bilateral mastectomy at the time of diagnosis not only reduces risk of a contralateral breast cancer, but can eliminate the need for radiation therapy and yield improved reconstruction options. However, most patients do not receive genetic counseling or testing at the time of their diagnosis. In this trial, we tested proactive rapid genetic counseling and testing (RGCT) in newly diagnosed breast cancer patients in order to facilitate pre-surgical genetic counseling and testing.


We recruited newly diagnosed breast cancer patients at increased risk for carrying a BRCA1/2 mutation. Of 379 eligible patients who completed a baseline survey, 330 agreed to randomization in a 2:1 ratio to RGCT (n = 220) versus UC (n = 108). Primary outcomes were genetic counseling and testing uptake and breast cancer surgical decisions.


RGCT led to higher overall (83.8% vs. 54.6%; p < 0.0001) and pre-surgical (57.8% vs. 38.7%; p = 0.001) genetic counseling uptake compared to UC. Despite higher rates of genetic counseling, RGCT did not differ from UC in overall (54.1% vs. 49.1%, p > 0.10) or pre-surgical (30.6% vs. 27.4%, p > 0.10) receipt of genetic test results nor did they differ in uptake of bilateral mastectomy (26.6% vs. 21.8%, p > 0.10).


Although RGCT yielded increased genetic counseling participation, this did not result in increased rates of pre-surgical genetic testing or impact surgical decisions. These data suggest that those patients most likely to opt for genetic testing at the time of diagnosis are being effectively identified by their surgeons.


BRCA1 BRCA2 Genetic counseling Contralateral mastectomy 



The authors are grateful to all the women who participated in this study. The authors would like to acknowledge contributions of Drs. Colette Magnant, Elizabeth Feldman and Ms. Tamara Drazin in providing access to their patients. This study was supported by Grants (R01 CA74861 and P30 CA051008) from the National Cancer Institute and by the Jess and Mildred Fisher Center for Hereditary Cancer and Clinical Genomics Research. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Cancer Institute or the National Institutes of Health.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflicts of interest.

Ethical standards

This study was approved by the Institutional Review Boards of all participating sites. The study complies with all current laws of the United States of America.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Marc D. Schwartz
    • 1
    • 2
  • Beth N. Peshkin
    • 1
    • 2
  • Claudine Isaacs
    • 1
    • 2
  • Shawna Willey
    • 1
    • 2
  • Heiddis B. Valdimarsdottir
    • 3
    • 4
  • Rachel Nusbaum
    • 5
  • Gillian Hooker
    • 6
  • Suzanne O’Neill
    • 1
    • 2
  • Lina Jandorf
    • 3
  • Scott P. Kelly
    • 7
  • Jessica Heinzmann
    • 8
  • Aliza Zidell
    • 9
  • Katia Khoury
    • 1
  1. 1.Georgetown Lombardi Comprehensive CancerGeorgetown UniversityWashingtonUSA
  2. 2.Jess and Mildred Fisher Center for Hereditary Cancer and Clinical Genomics ResearchGeorgetown UniversityWashingtonUSA
  3. 3.Department of Population Health Science and Policy, Center for Behavioral OncologyIcahn School of Medicine at Mount SinaiNew YorkUSA
  4. 4.Department of PsychologyReykjavik UniversityReykjavikIceland
  5. 5.School of MedicineUniversity of MarylandBaltimoreUSA
  6. 6.Concert Genetics, IncFranklinUSA
  7. 7.National Cancer InstituteBethesdaUSA
  8. 8.Atlantic Health ServicesCarol G. Simon Cancer CenterSummitUSA
  9. 9.Hackensack University Medical CenterHackensackUSA

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